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Case ID: 772 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 2,4 | ||||
| FVII:Ag% | UK | |||
| Reported Clinical Severity | Severe | |||
| Comments | ||||
| Reference | Kwon et al 2011 | Common Variant Sites tested and found to be as per the reference sequence in both alleles | ||
The details of the variants found in this patient are listed below
| Variant ID | No. of Cases | MAF* | Genotype | Type | Effect | Location in gene | Mutation (cDNA) | Sequence Context | Amino Acid | Protein Change | Domain | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HGVS | Legacy | |||||||||||
| 184 | 5 | Heterozygous | Point | Nonsense | Exon 5 | c.345C>A | 115 | 55 | p.Cys115* | EGF1 | ||
| 194 | 7 | 8.3E-6 | Heterozygous | Point | Intronic | Intron 6 | c.572-1G>A | 0 | 0 | |||